ClinVar Miner

List of variants in gene VCL reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.945C>A (p.Gly315=) rs61731180 0.02850
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_014000.3(VCL):c.1557C>A (p.Ile519=) rs150120464 0.00466
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_014000.3(VCL):c.1237G>A (p.Ala413Thr) rs146278697 0.00044
NM_014000.3(VCL):c.366G>A (p.Leu122=) rs199562976 0.00029
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_014000.3(VCL):c.2969C>T (p.Ala990Val) rs150595117 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_014000.3(VCL):c.2827C>G (p.Pro943Ala) rs71579375 0.00013
NM_014000.3(VCL):c.378C>T (p.Phe126=) rs148966602 0.00012
NM_014000.3(VCL):c.829C>A (p.Leu277Met) rs71579353 0.00010
NM_014000.3(VCL):c.1290C>T (p.Asp430=) rs576271894 0.00009
NM_014000.3(VCL):c.2799G>A (p.Ala933=) rs199507346 0.00009
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr) rs572757800 0.00008
NM_014000.3(VCL):c.1621C>G (p.Leu541Val) rs370229150 0.00008
NM_014000.3(VCL):c.3333T>C (p.Ala1111=) rs147415627 0.00008
NM_014000.3(VCL):c.1743+6A>T rs370709860 0.00006
NM_014000.3(VCL):c.2349G>A (p.Val783=) rs558040780 0.00006
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) rs779047174 0.00006
NM_014000.3(VCL):c.404T>C (p.Ile135Thr) rs373744314 0.00006
NM_014000.3(VCL):c.1534C>T (p.Arg512Cys) rs781079975 0.00004
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe) rs565398652 0.00004
NM_014000.3(VCL):c.255C>T (p.Cys85=) rs117384664 0.00004
NM_014000.3(VCL):c.1039C>T (p.Pro347Ser) rs566961713 0.00003
NM_014000.3(VCL):c.2875A>C (p.Asn959His) rs758969419 0.00003
NM_014000.3(VCL):c.3267G>C (p.Glu1089Asp) rs149300310 0.00003
NM_014000.3(VCL):c.1019C>T (p.Ala340Val) rs374928228 0.00002
NM_014000.3(VCL):c.1857G>A (p.Ala619=) rs1402201354 0.00002
NM_014000.3(VCL):c.163G>T (p.Val55Phe) rs755441334 0.00001
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg) rs397517236 0.00001
NM_014000.3(VCL):c.2284C>T (p.Arg762Trp) rs1334643090 0.00001
NM_014000.3(VCL):c.2520T>G (p.Pro840=) rs777218777 0.00001
NM_014000.3(VCL):c.2867T>G (p.Met956Arg) rs765717598 0.00001
NM_014000.3(VCL):c.313C>T (p.Arg105Ter) rs397517239 0.00001
NM_014000.3(VCL):c.3363A>C (p.Gly1121=) rs771949807 0.00001
NM_014000.3(VCL):c.625A>T (p.Met209Leu) rs144683137 0.00001
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.3(VCL):c.140T>G (p.Val47Gly) rs2136218338
NM_014000.3(VCL):c.1521C>T (p.Pro507=) rs1564529609
NM_014000.3(VCL):c.169-10delinsTG rs1554814892
NM_014000.3(VCL):c.1873-7C>T
NM_014000.3(VCL):c.1888G>A (p.Ala630Thr) rs727503739
NM_014000.3(VCL):c.2143G>A (p.Glu715Lys) rs1022329091
NM_014000.3(VCL):c.2247G>A (p.Leu749=) rs1840111616
NM_014000.3(VCL):c.2407G>A (p.Ala803Thr) rs754294941
NM_014000.3(VCL):c.2539C>G (p.Pro847Ala)
NM_014000.3(VCL):c.3350G>A (p.Arg1117Gln)
NM_014000.3(VCL):c.486G>C (p.Lys162Asn) rs1841656671
NM_014000.3(VCL):c.500G>A (p.Gly167Glu) rs1564523552
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014000.3(VCL):c.626T>A (p.Met209Lys) rs751243981
NM_014000.3(VCL):c.963del (p.Leu322fs) rs1564526327

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